List of variants in gene THPO reported as pathogenic for hematologic disorder

Minimum submission review status:		Collection method:
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Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 9

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HGVS	dbSNP	gnomAD frequency
NM_000460.4(THPO):c.469C>T (p.Arg157Ter)	rs1412486198	0.00001
NM_000460.4(THPO):c.-31G>T	rs771269271
NM_000460.4(THPO):c.-47del	rs1714397896
NM_000460.4(THPO):c.13+1G>C	rs2108623965
NM_000460.4(THPO):c.295C>T (p.Arg99Trp)
NM_000460.4(THPO):c.610dup (p.Glu204fs)	rs776536238
NM_000460.4(THPO):c.805dup (p.Leu269fs)	rs1577354471
NM_000460.4(THPO):c.825del (p.Ser276fs)	rs2108617673
NM_000460.4(THPO):c.91C>T (p.Arg31Ter)

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